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PubMed:15000256 JSONTXT

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LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
524 56-60 GeneOrGeneProduct denotes FMR1 NCBIGene:2332
525 69-77 DiseaseOrPhenotypicFeature denotes autistic MESH:D001321
526 82-99 DiseaseOrPhenotypicFeature denotes mentally retarded MESH:D008607
527 119-137 DiseaseOrPhenotypicFeature denotes Fragile X syndrome MESH:D005600
528 174-192 DiseaseOrPhenotypicFeature denotes mental retardation MESH:D008607
529 207-215 OrganismTaxon denotes patients NCBITaxon:9606
530 221-239 DiseaseOrPhenotypicFeature denotes fragile X syndrome MESH:D005600
531 261-267 DiseaseOrPhenotypicFeature denotes autism MESH:D001321
532 371-375 GeneOrGeneProduct denotes FMR1 NCBIGene:2332
533 407-415 OrganismTaxon denotes patients NCBITaxon:9606
534 500-504 GeneOrGeneProduct denotes FMR1 NCBIGene:2332
535 530-538 DiseaseOrPhenotypicFeature denotes autistic MESH:D001321
536 542-559 DiseaseOrPhenotypicFeature denotes mentally retarded MESH:D008607
537 699-707 OrganismTaxon denotes patients NCBITaxon:9606
538 729-736 OrganismTaxon denotes patient NCBITaxon:9606
539 802-839 SequenceVariant denotes A to C substitution at nucleotide 879 DBSNP:rs782013865
540 1103-1107 GeneOrGeneProduct denotes FMR1 NCBIGene:2332
541 1131-1137 DiseaseOrPhenotypicFeature denotes autism MESH:D001321
542 1142-1160 DiseaseOrPhenotypicFeature denotes mental retardation MESH:D008607
543 1173-1181 OrganismTaxon denotes patients NCBITaxon:9606

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-118 Sentence denotes Single-strand conformation polymorphism analysis of the FMR1 gene in autistic and mentally retarded children in Japan.
T2 119-268 Sentence denotes Fragile X syndrome is one of the most common causes of mental retardation in males, and patients with fragile X syndrome occasionally develop autism.
T3 269-467 Sentence denotes It is usually caused by an expansion of the trinucleotide repeat in the 5'-untranslated region of the FMR1 gene, but in a small number of patients deletions and point mutations have been identified.
T4 468-663 Sentence denotes We screened all 17 exons of the FMR1 gene for mutations in 90 autistic or mentally retarded children using polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis.
T5 664-708 Sentence denotes No mutations were found in 76 male patients.
T6 709-850 Sentence denotes However, one female patient was heterozygous for a normal allele and a mutant allele with an A to C substitution at nucleotide 879 in exon 9.
T7 851-894 Sentence denotes This mutation was not found in 50 controls.
T8 895-1060 Sentence denotes Reverse transcription-PCR revealed that a large proportion of the mutant transcripts were spliced aberrantly, causing premature termination of the protein synthesis.
T9 1061-1182 Sentence denotes Although uncommon, point mutations in the FMR1 gene may be a cause of autism and mental retardation in Japanese patients.

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 119-137 DiseaseOrPhenotypicFeature denotes Fragile X syndrome 0010383
T2 221-239 DiseaseOrPhenotypicFeature denotes fragile X syndrome 0010383
T3 261-267 DiseaseOrPhenotypicFeature denotes autism 0005260
T4 1131-1137 DiseaseOrPhenotypicFeature denotes autism 0005260

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 7-13 GeneOrGeneProduct denotes strand
T2 56-60 GeneOrGeneProduct denotes FMR1
T3 119-128 GeneOrGeneProduct denotes Fragile X
T4 129-137 GeneOrGeneProduct denotes syndrome
T5 196-201 GeneOrGeneProduct denotes males
T6 221-230 GeneOrGeneProduct denotes fragile X
T7 231-239 GeneOrGeneProduct denotes syndrome
T8 296-305 GeneOrGeneProduct denotes expansion
T9 371-375 GeneOrGeneProduct denotes FMR1
T10 376-390 GeneOrGeneProduct denotes gene, but in a
T11 391-396 GeneOrGeneProduct denotes small
T12 430-435 GeneOrGeneProduct denotes point
T13 436-445 GeneOrGeneProduct denotes mutations
T14 480-483 GeneOrGeneProduct denotes all
T15 500-504 GeneOrGeneProduct denotes FMR1
T16 514-523 GeneOrGeneProduct denotes mutations
T17 575-585 GeneOrGeneProduct denotes polymerase
T18 586-591 GeneOrGeneProduct denotes chain
T19 614-620 GeneOrGeneProduct denotes strand
T20 664-676 GeneOrGeneProduct denotes No mutations
T21 694-698 GeneOrGeneProduct denotes male
T22 780-786 GeneOrGeneProduct denotes mutant
T23 799-808 GeneOrGeneProduct denotes an A to C
T24 856-864 GeneOrGeneProduct denotes mutation
T25 903-916 GeneOrGeneProduct denotes transcription
T26 937-942 GeneOrGeneProduct denotes large
T27 961-967 GeneOrGeneProduct denotes mutant
T28 968-979 GeneOrGeneProduct denotes transcripts
T29 985-992 GeneOrGeneProduct denotes spliced
T30 1042-1049 GeneOrGeneProduct denotes protein
T31 1080-1085 GeneOrGeneProduct denotes point
T32 1086-1095 GeneOrGeneProduct denotes mutations
T33 1103-1107 GeneOrGeneProduct denotes FMR1
T34 1113-1121 GeneOrGeneProduct denotes may be a

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 56-60 GeneOrGeneProduct denotes FMR1
T2 119-128 GeneOrGeneProduct denotes Fragile X
T3 129-137 GeneOrGeneProduct denotes syndrome
T4 221-230 GeneOrGeneProduct denotes fragile X
T5 231-239 GeneOrGeneProduct denotes syndrome
T6 296-305 GeneOrGeneProduct denotes expansion
T7 371-375 GeneOrGeneProduct denotes FMR1
T8 391-396 GeneOrGeneProduct denotes small
T9 500-504 GeneOrGeneProduct denotes FMR1
T10 575-585 GeneOrGeneProduct denotes polymerase
T11 586-591 GeneOrGeneProduct denotes chain
T12 780-786 GeneOrGeneProduct denotes mutant
T13 903-916 GeneOrGeneProduct denotes transcription
T14 937-942 GeneOrGeneProduct denotes large
T15 961-967 GeneOrGeneProduct denotes mutant
T16 985-992 GeneOrGeneProduct denotes spliced
T17 1042-1049 GeneOrGeneProduct denotes protein
T18 1103-1107 GeneOrGeneProduct denotes FMR1

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 119-137 DiseaseOrPhenotypicFeature denotes Fragile X syndrome D005600
T2 174-192 DiseaseOrPhenotypicFeature denotes mental retardation D008607
T3 221-239 DiseaseOrPhenotypicFeature denotes fragile X syndrome D005600
T4 261-267 DiseaseOrPhenotypicFeature denotes autism D001321
T5 1131-1137 DiseaseOrPhenotypicFeature denotes autism D001321
T6 1142-1160 DiseaseOrPhenotypicFeature denotes mental retardation D008607

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 56-60 GeneOrGeneProduct denotes FMR1
T2 119-128 GeneOrGeneProduct denotes Fragile X
T3 221-230 GeneOrGeneProduct denotes fragile X
T4 296-305 GeneOrGeneProduct denotes expansion
T5 371-375 GeneOrGeneProduct denotes FMR1
T6 500-504 GeneOrGeneProduct denotes FMR1
T7 1103-1107 GeneOrGeneProduct denotes FMR1

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 119-137 DiseaseOrPhenotypicFeature denotes Fragile X syndrome 0010383
T2 174-192 DiseaseOrPhenotypicFeature denotes mental retardation 0001071
T3 221-239 DiseaseOrPhenotypicFeature denotes fragile X syndrome 0010383
T4 261-267 DiseaseOrPhenotypicFeature denotes autism 0005260
T5 1131-1137 DiseaseOrPhenotypicFeature denotes autism 0005260
T6 1142-1160 DiseaseOrPhenotypicFeature denotes mental retardation 0001071

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 207-215 OrganismTaxon denotes patients
T2 407-415 OrganismTaxon denotes patients
T3 699-707 OrganismTaxon denotes patients
T4 729-736 OrganismTaxon denotes patient
T5 1173-1181 OrganismTaxon denotes patients

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 69-77 DiseaseOrPhenotypicFeature denotes autistic DISEASE
T2 82-99 DiseaseOrPhenotypicFeature denotes mentally retarded DISEASE
T3 119-137 DiseaseOrPhenotypicFeature denotes Fragile X syndrome D005600
T4 174-192 DiseaseOrPhenotypicFeature denotes mental retardation D008607
T5 221-239 DiseaseOrPhenotypicFeature denotes fragile X syndrome D005600
T6 261-267 DiseaseOrPhenotypicFeature denotes autism D001321
T7 530-538 DiseaseOrPhenotypicFeature denotes autistic DISEASE
T8 542-559 DiseaseOrPhenotypicFeature denotes mentally retarded DISEASE
T9 1131-1137 DiseaseOrPhenotypicFeature denotes autism D001321
T10 1142-1160 DiseaseOrPhenotypicFeature denotes mental retardation D008607

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 69-77 DiseaseOrPhenotypicFeature denotes autistic DISEASE
T2 82-99 DiseaseOrPhenotypicFeature denotes mentally retarded DISEASE
T3 119-137 DiseaseOrPhenotypicFeature denotes Fragile X syndrome D005600
T4 174-192 DiseaseOrPhenotypicFeature denotes mental retardation D008607
T5 221-239 DiseaseOrPhenotypicFeature denotes fragile X syndrome D005600
T6 261-267 DiseaseOrPhenotypicFeature denotes autism D001321
T7 530-538 DiseaseOrPhenotypicFeature denotes autistic DISEASE
T8 542-559 DiseaseOrPhenotypicFeature denotes mentally retarded DISEASE
T9 1131-1137 DiseaseOrPhenotypicFeature denotes autism D001321
T10 1142-1160 DiseaseOrPhenotypicFeature denotes mental retardation D008607

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label
T7 1103-1107 GeneOrGeneProduct denotes FMR1
T6 500-504 GeneOrGeneProduct denotes FMR1
T5 371-375 GeneOrGeneProduct denotes FMR1
T4 296-305 GeneOrGeneProduct denotes expansion
T3 221-230 GeneOrGeneProduct denotes fragile X
T2 119-128 GeneOrGeneProduct denotes Fragile X
T1 56-60 GeneOrGeneProduct denotes FMR1
T10 1142-1160 DiseaseOrPhenotypicFeature denotes mental retardation D008607
T9 1131-1137 DiseaseOrPhenotypicFeature denotes autism D001321
T8 542-559 DiseaseOrPhenotypicFeature denotes mentally retarded DISEASE
T16460 530-538 DiseaseOrPhenotypicFeature denotes autistic DISEASE
T50112 261-267 DiseaseOrPhenotypicFeature denotes autism D001321
T56812 221-239 DiseaseOrPhenotypicFeature denotes fragile X syndrome D005600
T39378 174-192 DiseaseOrPhenotypicFeature denotes mental retardation D008607
T42164 119-137 DiseaseOrPhenotypicFeature denotes Fragile X syndrome D005600
T37013 82-99 DiseaseOrPhenotypicFeature denotes mentally retarded DISEASE
T50736 69-77 DiseaseOrPhenotypicFeature denotes autistic DISEASE
T83780 1173-1181 OrganismTaxon denotes patients
T96597 729-736 OrganismTaxon denotes patient
T24290 699-707 OrganismTaxon denotes patients
T53741 407-415 OrganismTaxon denotes patients
T15217 207-215 OrganismTaxon denotes patients

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
15000256-0#56#60#gene2332 56-60 gene2332 denotes FMR1
15000256-0#69#77#diseaseC0004352 69-77 diseaseC0004352 denotes autistic
15000256-8#42#46#gene2332 1103-1107 gene2332 denotes FMR1
15000256-8#81#99#diseaseC3714756 1142-1160 diseaseC3714756 denotes mental retardation
56#60#gene233269#77#diseaseC0004352 15000256-0#56#60#gene2332 15000256-0#69#77#diseaseC0004352 associated_with FMR1,autistic
42#46#gene233281#99#diseaseC3714756 15000256-8#42#46#gene2332 15000256-8#81#99#diseaseC3714756 associated_with FMR1,mental retardation

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1103-1107 gene:2477 denotes FMR1
T1 1142-1160 disease:C0025362 denotes mental retardation
T2 1103-1107 gene:2332 denotes FMR1
T3 1142-1160 disease:C0025362 denotes mental retardation
R1 T0 T1 associated_with FMR1,mental retardation
R2 T2 T3 associated_with FMR1,mental retardation